SLC4A5 c.752G>A ;(p.S251N)

Variant ID: 2-74489323-C-T

NM_133478.2(SLC4A5):c.752G>A;(p.S251N)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: SLC4A5: S251N
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Bmc Medical Genomics
Lin, Dafeng D; Wang, Dianpeng D; Li, Peimao P; Deng, Lihua L; Zhang, Zhimin Z; Zhang, Yanfang Y; Zhang, Ming M; Zhang, Naixing N
Publication Date: 2023-01-26

Variant appearance in text: SLC4A5: 752G>A; Ser251Asn; rs17009792
PubMed Link: 36703207
Variant Present in the following documents:
  • 12920_2023_1442_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genetic modifiers of long-term survival in sickle cell anemia.

Clinical And Translational Medicine
Wonkam, Ambroise A; Chimusa, Emile R ER; Mnika, Khuthala K; Pule, Gift Dineo GD; Ngo Bitoungui, Valentina Josiane VJ; Mulder, Nicola N; Shriner, Daniel D; Rotimi, Charles N CN; Adeyemo, Adebowale A
Publication Date: 2020-08

Variant appearance in text: SLC4A5: S251N; rs17009792
PubMed Link: 32898326
Variant Present in the following documents:
  • CTM2-10-e152-s001.pdf
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: SLC4A5: S251N; rs17009792
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs17009792
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: SLC4A5: S251N
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: SLC4A5: S251N; rs17009792
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Functional identification of the promoter of SLC4A5, a gene associated with cardiovascular and metabolic phenotypes in the HERITAGE Family Study.

European Journal Of Human Genetics : Ejhg
Stütz, Adrian M AM; Teran-Garcia, Margarita M; Rao, D C DC; Rice, Treva T; Bouchard, Claude C; Rankinen, Tuomo T
Publication Date: 2009-11

Variant appearance in text: rs17009792
PubMed Link: 19384345
Variant Present in the following documents:
  • Main text
View BVdb publication page



Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor.

European Journal Of Human Genetics : Ejhg
Ban, Maria M; Goris, An A; Lorentzen, Aslaug R AR; Baker, Amie A; Mihalova, Tania T; Ingram, Gillian G; Booth, David R DR; Heard, Robert N RN; Stewart, Graeme J GJ; Bogaert, Elke E; Dubois, Bénédicte B; Harbo, Hanne F HF; Celius, Elisabeth G EG; Spurkland, Anne A; Strange, Richard R; Hawkins, Clive C; Robertson, Neil P NP; Dudbridge, Frank F; Wason, James J; De Jager, Philip L PL; Hafler, David D; Rioux, John D JD; Ivinson, Adrian J AJ; McCauley, Jacob L JL; Pericak-Vance, Margaret M; Oksenberg, Jorge R JR; Hauser, Stephen L SL; Sexton, David D; Haines, Jonathan J; Sawcer, Stephen S; , ; Compston, Alastair A
Publication Date: 2009-10

Variant appearance in text: rs17009792
PubMed Link: 19293837
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.

Nature Genetics
, ; , ; Burton, Paul R PR; Clayton, David G DG; Cardon, Lon R LR; Craddock, Nick N; Deloukas, Panos P; Duncanson, Audrey A; Kwiatkowski, Dominic P DP; McCarthy, Mark I MI; Ouwehand, Willem H WH; Samani, Nilesh J NJ; Todd, John A JA; Donnelly, Peter P; Barrett, Jeffrey C JC; Davison, Dan D; Easton, Doug D; Evans, David M DM; Leung, Hin-Tak HT; Marchini, Jonathan L JL; Morris, Andrew P AP; Spencer, Chris C A CC; Tobin, Martin D MD; Attwood, Antony P AP; Boorman, James P JP; Cant, Barbara B; Everson, Ursula U; Hussey, Judith M JM; Jolley, Jennifer D JD; Knight, Alexandra S AS; Koch, Kerstin K; Meech, Elizabeth E; Nutland, Sarah S; Prowse, Christopher V CV; Stevens, Helen E HE; Taylor, Niall C NC; Walters, Graham R GR; Walker, Neil M NM; Watkins, Nicholas A NA; Winzer, Thilo T; Jones, Richard W RW; McArdle, Wendy L WL; Ring, Susan M SM; Strachan, David P DP; Pembrey, Marcus M; Breen, Gerome G; St Clair, David D; Caesar, Sian S; Gordon-Smith, Katharine K; Jones, Lisa L; Fraser, Christine C; Green, Elaine K EK; Grozeva, Detelina D; Hamshere, Marian L ML; Holmans, Peter A PA; Jones, Ian R IR; Kirov, George G; Moskivina, Valentina V; Nikolov, Ivan I; O'Donovan, Michael C MC; Owen, Michael J MJ; Collier, David A DA; Elkin, Amanda A; Farmer, Anne A; Williamson, Richard R; McGuffin, Peter P; Young, Allan H AH; Ferrier, I Nicol IN; Ball, Stephen G SG; Balmforth, Anthony J AJ; Barrett, Jennifer H JH; Bishop, Timothy D TD; Iles, Mark M MM; Maqbool, Azhar A; Yuldasheva, Nadira N; Hall, Alistair S AS; Braund, Peter S PS; Dixon, Richard J RJ; Mangino, Massimo M; Stevens, Suzanne S; Thompson, John R JR; Bredin, Francesca F; Tremelling, Mark M; Parkes, Miles M; Drummond, Hazel H; Lees, Charles W CW; Nimmo, Elaine R ER; Satsangi, Jack J; Fisher, Sheila A SA; Forbes, Alastair A; Lewis, Cathryn M CM; Onnie, Clive M CM; Prescott, Natalie J NJ; Sanderson, Jeremy J; Matthew, Christopher G CG; Barbour, Jamie J; Mohiuddin, M Khalid MK; Todhunter, Catherine E CE; Mansfield, John C JC; Ahmad, Tariq T; Cummings, Fraser R FR; Jewell, Derek P DP; Webster, John J; Brown, Morris J MJ; Lathrop, Mark G MG; Connell, John J; Dominiczak, Anna A; Marcano, Carolina A Braga CA; Burke, Beverley B; Dobson, Richard R; Gungadoo, Johannie J; Lee, Kate L KL; Munroe, Patricia B PB; Newhouse, Stephen J SJ; Onipinla, Abiodun A; Wallace, Chris C; Xue, Mingzhan M; Caulfield, Mark M; Farrall, Martin M; Barton, Anne A; , ; Bruce, Ian N IN; Donovan, Hannah H; Eyre, Steve S; Gilbert, Paul D PD; Hilder, Samantha L SL; Hinks, Anne M AM; John, Sally L SL; Potter, Catherine C; Silman, Alan J AJ; Symmons, Deborah P M DP; Thomson, Wendy W; Worthington, Jane J; Dunger, David B DB; Widmer, Barry B; Frayling, Timothy M TM; Freathy, Rachel M RM; Lango, Hana H; Perry, John R B JR; Shields, Beverley M BM; Weedon, Michael N MN; Hattersley, Andrew T AT; Hitman, Graham A GA; Walker, Mark M; Elliott, Kate S KS; Groves, Christopher J CJ; Lindgren, Cecilia M CM; Rayner, Nigel W NW; Timpson, Nicolas J NJ; Zeggini, Eleftheria E; Newport, Melanie M; Sirugo, Giorgio G; Lyons, Emily E; Vannberg, Fredrik F; Hill, Adrian V S AV; Bradbury, Linda A LA; Farrar, Claire C; Pointon, Jennifer J JJ; Wordsworth, Paul P; Brown, Matthew A MA; Franklyn, Jayne A JA; Heward, Joanne M JM; Simmonds, Matthew J MJ; Gough, Stephen C L SC; Seal, Sheila S; , ; Stratton, Michael R MR; Rahman, Nazneen N; Ban, Maria M; Goris, An A; Sawcer, Stephen J SJ; Compston, Alastair A; Conway, David D; Jallow, Muminatou M; Newport, Melanie M; Sirugo, Giorgio G; Rockett, Kirk A KA; Bumpstead, Suzannah J SJ; Chaney, Amy A; Downes, Kate K; Ghori, Mohammed J R MJ; Gwilliam, Rhian R; Hunt, Sarah E SE; Inouye, Michael M; Keniry, Andrew A; King, Emma E; McGinnis, Ralph R; Potter, Simon S; Ravindrarajah, Rathi R; Whittaker, Pamela P; Widden, Claire C; Withers, David D; Cardin, Niall J NJ; Davison, Dan D; Ferreira, Teresa T; Pereira-Gale, Joanne J; Hallgrimsdo'ttir, Ingeleif B IB; Howie, Bryan N BN; Su, Zhan Z; Teo, Yik Ying YY; Vukcevic, Damjan D; Bentley, David D; Brown, Matthew A MA; Compston, Alastair A; Farrall, Martin M; Hall, Alistair S AS; Hattersley, Andrew T AT; Hill, Adrian V S AV; Parkes, Miles M; Pembrey, Marcus M; Stratton, Michael R MR; Mitchell, Sarah L SL; Newby, Paul R PR; Brand, Oliver J OJ; Carr-Smith, Jackie J; Pearce, Simon H S SH; McGinnis, R R; Keniry, A A; Deloukas, P P; Reveille, John D JD; Zhou, Xiaodong X; Sims, Anne-Marie AM; Dowling, Alison A; Taylor, Jacqueline J; Doan, Tracy T; Davis, John C JC; Savage, Laurie L; Ward, Michael M MM; Learch, Thomas L TL; Weisman, Michael H MH; Brown, Mathew M
Publication Date: 2007-11

Variant appearance in text: rs17009792
PubMed Link: 17952073
Variant Present in the following documents:
  • Main text
View BVdb publication page